ABSTRACT
At present, over 20 genes have been identified that through mutation cause various forms of Charcot-Marie-tooth (CMT) disease. The major division of CMT into type 1 (CMT1) and type 2 (CMT2) has been accepted for many years now, and this division still seems to be helpful in delineating the various types of CMT despite the ever increasing identification of CMT genes and genetic loci. In this chapter, I will focus predominantly on the autosomal dominant (AD) forms of CMT1 (demyelinating) and CMT2 (axonal). The autosomal recessive (AR) forms of CMT are less common and will not be reviewed in this chapter for space constraints (discussed in Ref. 1). I will describe the basic clinical and genetic features of the major forms of AD CMT1 and CMT2, along with a discussion of the possible underlying pathogenetic mechanism for each CMT form, if it is known.
